Canonical Allele Identifier: CA2147059210

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480568_74480569delinsCT , CM000676.2:g.74480568_74480569delinsCT	GRCh38
NC_000014.8:g.74947271_74947272delinsCT , CM000676.1:g.74947271_74947272delinsCT	GRCh37
NC_000014.7:g.74017024_74017025delinsCT	NCBI36
NG_007117.1:g.17813_17814delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.441+133_441+134delinsAG MANE Select	ENSP00000451112.2:n.441+133_441+134delinsAG
ENST00000238633.6:c.432+142_432+143delinsAG	ENSP00000238633.2:n.432+142_432+143delinsAG
ENST00000434013.6:c.441+133_441+134delinsAG	ENSP00000412103.2:n.441+133_441+134delinsAG
ENST00000541064.5:c.364-281_364-280delinsAG	ENSP00000442488.1:n.364-281_364-280delinsAG
ENST00000553490.5:c.457+117_457+118delinsAG	ENSP00000451180.1:n.457+117_457+118delinsAG
ENST00000554482.1:c.236+133_236+134delinsAG	ENSP00000451314.1:n.236+133_236+134delinsAG
ENST00000555619.5:c.441+133_441+134delinsAG	ENSP00000451112.1:n.441+133_441+134delinsAG
ENST00000556009.5:c.506+133_506+134delinsAG
ENST00000557510.5:c.*49_*50delinsAG	ENSP00000451206.1:n.*49_*50delinsAG
NM_006432.3:c.441+133_441+134delinsAG	NP_006423.1:n.441+133_441+134delinsAG
NM_001363688.1:c.*49_*50delinsAG	NP_001350617.1:n.*49_*50delinsAG
NM_006432.4:c.441+133_441+134delinsAG	NP_006423.1:n.441+133_441+134delinsAG
NM_001375440.1:c.364-281_364-280delinsAG	NP_001362369.1:n.364-281_364-280delinsAG
NM_006432.5:c.441+133_441+134delinsAG MANE Select	NP_006423.1:n.441+133_441+134delinsAG